Ep. 83: Distal Muscular Weakness: New Genes and Pathogenetic Mechanisms

Moderator: Gabriele Siciliano (Pisa, Italy)Guest: Tiziana Mongini (Torino, Italy)In this episode, Prof. Gabriele Siciliano and Prof. Tiziana Mongini discuss a recent paper on Bag3 gene mutations linked to neurogenic distal muscle atrophy. They explore the evolving understanding of muscle dystrophies, the importance of genetic and molecular aspects, and challenges in diagnosis. Mongini underscores the significance of ancillary exams like neurophysiology and muscle MRI. They emphasize the complexity of genetic testing, advocating for a multidimensional approach involving clinical, genetic, and imaging data. Collaboration between basic and clinical researchers is stressed to comprehend neuromuscular complexities. The podcast concludes with a reminder to interpret genetic results cautiously and remain open-minded to diverse clinical presentations.